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Timothy syndrome
Genetics:
- associated with defects in CACNA1C
Clinical manifestations:
- multiorgan dysfunction
- congenital heart disease
- lethal arrhythmias
- webbing of fingers & toes
- immune deficiency
- intermittent hypoglycemia,
- cognitive impairment
- autism
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 601005
References
OMIM :accession 601005